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Potholes Common In The Human Genome

  December, 14 2005 10:59
your information resource in human molecular genetics
Three new studies published in the January issue of Nature Genetics highlight the dramatic and very common ways in which the genomes of individual people can differ from one another. Just as humans differ from one another in height, eye color and susceptibility to disease, the underlying genes responsible for these traits differ between individuals. The current studies characterize variation related to the number of times a genetic region is repeated and deletions that are present throughout the genome.

Jonathan Pritchard and colleagues followed the inheritance of DNA variants called polymorphic deletions in several hundred healthy people, developing a technique for following these previously invisible elements of the human genome. Kelly Frazer and colleagues conclude from their parallel study that many of the deletions are ancient and shared between people from three major continental ancestry groups. Finally, David Altshuler and colleagues found deletions near to several hundred genes in their study, as well as ten genes with deletions that may directly affect their function.

The three groups hope that their discoveries will aid in the understanding of the way that gene variants affect the risk of a range of common and complex human diseases.

Author Contacts

Dr Jonathan Pritchard (University of Chicago, IL, USA)
Email: pritch@genetics.uchicago.edu

Dr Kelly Frazer (Perlegen Sciences, Inc., Mountain View, CA, USA)
Email: kelly_frazer@perlegen.com

Dr David Altshuler (Harvard University and the Broad Institute, Cambridge, MA, USA)
Email: altshuler@molbio.mgh.harvard.edu

Additional contact for comment on papers:

Dr Evan Eichler (University of Washington, Seattle, USA)
Email: eee@gs.washington.edu

Abstracts available online:
Paper 1.
Paper 2.
Paper 3.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

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